Open AccessThe Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in theRPGRGene
Author(s) -
Mays Talib,
Mary J. van Schooneveld,
Caroline Van Cauwenbergh,
Jan Wijnholds,
Jacoline B. ten Brink,
Ralph J. Florijn,
Nicoline E. SchalijDelfos,
Gislin Dagnelie,
Maria M. van Genderen,
Elfride De Baere,
Magda A. MeesterSmoor,
Julie De Zaeytijd,
Frans P.M. Cremers,
L. Ingeborgh van den Born,
Alberta A. H. J. Thiadens,
Carel B. Hoyng,
Caroline C. W. Klaver,
Bart P. Leroy,
Arthur A. Bergen,
Camiel J. F. Boon
Publication year - 2018
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.17-23453
Subject(s) - pedigree chart , retinitis pigmentosa , heterozygote advantage , medicine , compound heterozygosity , fundus (uterus) , visual acuity , ophthalmology , mutation , genetics , retinal , genotype , biology , gene
The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations.
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